view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NEURL1B_chr5_172636263_172696540 | 172667275 | T | TAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01074.hp1 HG01255.hp1 others(9): Show |
a0001a0005 | a0001c0001a0005c0015 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 others(9): Show |
12 | 392 | 0.0306 | 30 | c.32- others(45): Show |
NEURL1B | ENSG00000214357.9 | transcript | ENST00000369800.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
NEURL1_chr10_103488705_103597546 | 103596663 | A | ACACACAC others(23): Show |
downstream_gene_variant | MODIFIER | NA19000.hp1 NA19066.hp1 |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0067 a0001c0002t0004g0129 |
2 | 312 | 0.0064 | 30 | c.*62 others(41): Show |
NEURL1 | ENSG00000107954.11 | transcript | ENST00000369780.9 | protein_coding | 4118 | chr10 | TogoVar | |||||||
NEURL1_chr10_103488705_103597546 | 103596685 | T | TCTCTCTC others(23): Show |
downstream_gene_variant | MODIFIER | HG04228.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0189 | 1 | 312 | 0.0032 | 30 | c.*63 others(41): Show |
NEURL1 | ENSG00000107954.11 | transcript | ENST00000369780.9 | protein_coding | 4140 | chr10 | TogoVar | |||||||
NEUROD6_chr7_31332465_31345726 | 31334302 | C | CTTTCTTT others(23): Show |
downstream_gene_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 414 | 0.0024 | 30 | c.*39 others(41): Show |
NEUROD6 | ENSG00000164600.7 | transcript | ENST00000297142.4 | protein_coding | 3162 | chr7 | TogoVar | |||||||
NEXMIF_chrX_74727856_74930452 | 74796104 | T | TTATATAT others(23): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02896.hp1 HG03540.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0010a0002c0004t0001others(1): Show | a0001c0001t0001g0216 a0001c0001t0010g0190 a0002c0004t0001g0202 others(1): Show |
4 | 224 | 0.0179 | 30 | c.-47 others(49): Show |
NEXMIF | ENSG00000050030.16 | transcript | ENST00000055682.12 | protein_coding | 1/3 | chrX | TogoVar | |||||||
NEXN_chr1_77883624_77948895 | 77887926 | T | TCTTCTCC others(23): Show |
upstream_gene_variant | MODIFIER | NA18946.hp1 NA19090.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013 | a0001c0001t0001g0061 a0001c0001t0013g0040 |
2 | 268 | 0.0075 | 30 | c.-88 others(39): Show |
NEXN | ENSG00000162614.19 | transcript | ENST00000334785.12 | protein_coding | 697 | chr1 | TogoVar | |||||||
NF1_chr17_31089977_31382675 | 31274899 | T | TTTCTCCT others(23): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 252 | 0.0040 | 30 | c.483 others(49): Show |
NF1 | ENSG00000196712.20 | transcript | ENST00000358273.9 | protein_coding | 36/57 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
NF1_chr17_31089977_31382675 | 31322501 | C | CAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 252 | 0.0040 | 30 | c.483 others(49): Show |
NF1 | ENSG00000196712.20 | transcript | ENST00000358273.9 | protein_coding | 36/57 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
NFASC_chr1_204823652_205027822 | 204926406 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0011 | a0011c0037 | a0011c0037t0004 | a0011c0037t0004g0110 | 1 | 226 | 0.0044 | 30 | c.-91 others(47): Show |
NFASC | ENSG00000163531.17 | transcript | ENST00000339876.11 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NFASC_chr1_204865862_205027822 | 204926406 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0140 | 1 | 264 | 0.0038 | 30 | c.-90 others(49): Show |
NFASC | ENSG00000163531.17 | transcript | ENST00000539706.6 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NFAT5_chr16_69560966_69709654 | 69568346 | A | ATATGTGT others(23): Show |
intron_variant | MODIFIER | HG03704.hp2 NA18981.hp2 NA20805.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0034 | a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0034g0056 |
3 | 380 | 0.0079 | 30 | c.74- others(43): Show |
NFAT5 | ENSG00000102908.23 | transcript | ENST00000349945.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NFAT5_chr16_69560966_69709654 | 69568346 | A | ATGTGTGT others(23): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0158 | 1 | 380 | 0.0026 | 30 | c.74- others(43): Show |
NFAT5 | ENSG00000102908.23 | transcript | ENST00000349945.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NFATC1_chr18_79390930_79534323 | 79464668 | G | GTGTGTGT others(23): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01123.hp1 HG01123.hp2 others(3): Show |
a0001a0003a0008 | a0001c0024a0001c0055a0003c0007others(1): Show | a0001c0024t0008a0001c0055t0001a0003c0007t0001others(3): Show | a0001c0024t0008g0013 a0001c0055t0001g0214 a0003c0007t0001g0206 others(3): Show |
6 | 322 | 0.0186 | 30 | c.196 others(49): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
NFATC1_chr18_79390930_79534323 | 79481798 | C | CTCCAGCG others(23): Show |
intron_variant | MODIFIER | HG02922.hp2 HG03516.hp1 |
a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0056 a0001c0005t0005g0111 |
2 | 322 | 0.0062 | 30 | c.209 others(49): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
NFATC1_chr18_79390930_79534323 | 79483821 | G | GTCCTGGG others(23): Show |
intron_variant | MODIFIER | HG01891.hp2 HG01952.hp2 HG02293.hp1 others(21): Show |
a0001 | a0001c0005a0001c0013a0001c0025others(2): Show | a0001c0005t0004a0001c0005t0005a0001c0005t0009others(11): Show | a0001c0005t0004g0058 a0001c0005t0005g0055 a0001c0005t0005g0056 others(21): Show |
24 | 322 | 0.0745 | 30 | c.209 others(49): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
NFIA_chr1_61077561_61467788 | 61466704 | T | TATATATA others(23): Show |
downstream_gene_variant | MODIFIER | HG03130.hp2 HG03195.hp2 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0027a0001c0001t0030 | a0001c0001t0009g0067 a0001c0001t0027g0144 a0001c0001t0030g0109 |
3 | 156 | 0.0192 | 30 | c.*11 others(43): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 3917 | chr1 | TogoVar | |||||||
NFIA_chr1_61077561_61467788 | 61466738 | C | CACACACA others(23): Show |
downstream_gene_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 156 | 0.0064 | 30 | c.*11 others(43): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 3951 | chr1 | TogoVar | |||||||
NFIA_chr1_61077561_61467788 | 61466738 | C | CACACACA others(23): Show |
downstream_gene_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0110 | 1 | 156 | 0.0064 | 30 | c.*11 others(43): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 3951 | chr1 | TogoVar | |||||||
NFIC_chr19_3361583_3474217 | 3467758 | C | CATATATA others(23): Show |
3_prime_UTR_variant | MODIFIER | HG03195.hp2 NA18995.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0181a0002c0003t0038 | a0001c0001t0181g0177 a0002c0003t0038g0253 |
2 | 300 | 0.0067 | 30 | c.*49 others(41): Show |
NFIC | ENSG00000141905.19 | transcript | ENST00000443272.3 | protein_coding | 11/11 | 5021 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
NFIC_chr19_3361583_3474217 | 3467781 | A | ATATATAT others(23): Show |
3_prime_UTR_variant | MODIFIER | HG02895.hp2 | a0002 | a0002c0003 | a0002c0003t0196 | a0002c0003t0196g0292 | 1 | 300 | 0.0033 | 30 | c.*50 others(41): Show |
NFIC | ENSG00000141905.19 | transcript | ENST00000443272.3 | protein_coding | 11/11 | 5021 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
NFIC_chr19_3361583_3474217 | 3467788 | T | TATATATA others(23): Show |
3_prime_UTR_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0001 | a0001c0001t0211 | a0001c0001t0211g0081 | 1 | 300 | 0.0033 | 30 | c.*50 others(41): Show |
NFIC | ENSG00000141905.19 | transcript | ENST00000443272.3 | protein_coding | 11/11 | 5021 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
NFILZ_chr19_8625633_8686151 | 8663724 | G | GTGTGTGT others(23): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02897.hp1 HG03130.hp1 |
a0004a0005 | a0004c0004a0005c0005 | a0004c0004t0070a0005c0005t0018 | a0004c0004t0070g0113 a0005c0005t0018g0111 a0005c0005t0018g0112 |
3 | 366 | 0.0082 | 30 | c.-16 others(51): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NFILZ_chr19_8625633_8686151 | 8663734 | G | GTGTATGT others(23): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG02723.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0016a0001c0001t0148 | a0001c0001t0004g0021 a0001c0001t0016g0341 a0001c0001t0148g0020 |
3 | 366 | 0.0082 | 30 | c.-16 others(51): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NFILZ_chr19_8625633_8686151 | 8663742 | G | GTGTGTGT others(23): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00621.hp1 others(44): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(27): Show | a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 others(44): Show |
47 | 366 | 0.1284 | 30 | c.-16 others(51): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NFILZ_chr19_8625633_8686151 | 8663744 | G | GTGTGTAT others(23): Show |
intron_variant | MODIFIER | HG02683.hp1 HG03831.hp1 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0101 | a0002c0002t0002g0222 a0002c0002t0101g0212 |
2 | 366 | 0.0055 | 30 | c.-16 others(51): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NGEF_chr2_232873701_233018256 | 232944726 | A | AATATATA others(23): Show |
intron_variant | MODIFIER | HG02071.hp1 NA18953.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0007 | a0001c0001t0005g0258 a0001c0001t0007g0350 |
2 | 362 | 0.0055 | 30 | c.384 others(49): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 3/14 | chr2 | TogoVar | |||||||
NHEJ1_chr2_219064357_219165815 | 219159526 | C | CATATATA others(23): Show |
intron_variant | MODIFIER | NA18992.hp1 NA19074.hp2 |
a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0008 a0001c0001t0017g0009 |
2 | 350 | 0.0057 | 30 | c.1-1 others(43): Show |
NHEJ1 | ENSG00000187736.14 | transcript | ENST00000356853.10 | protein_coding | 1/7 | chr2 | TogoVar | |||||||
NHEJ1_chr2_219064357_219165815 | 219159576 | C | CATATATA others(23): Show |
intron_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0226 | 1 | 350 | 0.0029 | 30 | c.-1+ others(45): Show |
NHEJ1 | ENSG00000187736.14 | transcript | ENST00000356853.10 | protein_coding | 1/7 | chr2 | TogoVar | |||||||
NHSL1_chr6_138417043_138504494 | 138437325 | C | CACACATA others(23): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0042 | a0001c0042t0008 | a0001c0042t0008g0137 | 1 | 332 | 0.0030 | 30 | c.665 others(47): Show |
NHSL1 | ENSG00000135540.12 | transcript | ENST00000343505.10 | protein_coding | 5/7 | chr6 | TogoVar | |||||||
NHSL2_chrX_71905845_72158286 | 71963987 | A | ATGTGTAT others(23): Show |
intron_variant | MODIFIER | HG02818.hp2 HG03209.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0056a0001c0003t0033 | a0001c0001t0056g0092 a0001c0003t0033g0093 |
2 | 187 | 0.0107 | 30 | c.280 others(49): Show |
NHSL2 | ENSG00000204131.11 | transcript | ENST00000633930.2 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
NHSL2_chrX_71905845_72158286 | 71964029 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG02523.hp2 NA19068.hp1 |
a0001 | a0001c0001 | a0001c0001t0066a0001c0001t0072 | a0001c0001t0066g0046 a0001c0001t0072g0038 |
2 | 187 | 0.0107 | 30 | c.280 others(49): Show |
NHSL2 | ENSG00000204131.11 | transcript | ENST00000633930.2 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
NHSL2_chrX_71905845_72158286 | 72039067 | T | TTTTCCTT others(23): Show |
intron_variant | MODIFIER | HG01433.hp1 NA18984.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0170 a0001c0001t0009g0184 |
2 | 187 | 0.0107 | 30 | c.281 others(49): Show |
NHSL2 | ENSG00000204131.11 | transcript | ENST00000633930.2 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
NHSL2_chrX_71905845_72158286 | 72048987 | G | GAGAAGAA others(23): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02280.hp2 HG02451.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0015a0001c0020others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0015others(5): Show | a0001c0001t0001g0035 a0001c0001t0005g0146 a0001c0001t0015g0135 others(6): Show |
9 | 187 | 0.0481 | 30 | c.281 others(49): Show |
NHSL2 | ENSG00000204131.11 | transcript | ENST00000633930.2 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
NHSL2_chrX_71905845_72158286 | 72049009 | A | AGAAGAAG others(23): Show |
intron_variant | MODIFIER | HG02717.hp1 HG02809.hp2 NA19240.hp2 |
a0001a0011 | a0001c0001a0001c0003a0011c0017 | a0001c0001t0057a0001c0003t0012a0011c0017t0053 | a0001c0001t0057g0103 a0001c0003t0012g0058 a0011c0017t0053g0059 |
3 | 187 | 0.0160 | 30 | c.281 others(49): Show |
NHSL2 | ENSG00000204131.11 | transcript | ENST00000633930.2 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
NHS_chrX_17370200_17740994 | 17378059 | C | CGTGTGTG others(23): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0155 | 1 | 164 | 0.0061 | 30 | c.565 others(47): Show |
NHS | ENSG00000188158.17 | transcript | ENST00000676302.1 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
NIBAN1_chr1_184786032_184979508 | 184913138 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0002 | a0002c0019 | a0002c0019t0028 | a0002c0019t0028g0171 | 1 | 256 | 0.0039 | 30 | c.56- others(47): Show |
NIBAN1 | ENSG00000135842.17 | transcript | ENST00000367511.4 | protein_coding | 1/13 | chr1 | TogoVar | |||||||
NIBAN1_chr1_184786032_184979508 | 184955307 | T | TTTTCCTT others(23): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01243.hp1 HG01346.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0187 others(4): Show |
7 | 256 | 0.0273 | 30 | c.55+ others(47): Show |
NIBAN1 | ENSG00000135842.17 | transcript | ENST00000367511.4 | protein_coding | 1/13 | chr1 | TogoVar | |||||||
NID2_chr14_51999809_52074059 | 52035856 | G | GTATATAT others(23): Show |
intron_variant | MODIFIER | HG00558.hp1 HG02083.hp2 HG03654.hp2 others(4): Show |
a0002a0003a0004 | a0002c0004a0003c0002a0004c0012 | a0002c0004t0001a0003c0002t0001a0004c0012t0002 | a0002c0004t0001g0093 a0002c0004t0001g0131 a0002c0004t0001g0152 others(4): Show |
7 | 372 | 0.0188 | 30 | c.225 others(49): Show |
NID2 | ENSG00000087303.19 | transcript | ENST00000216286.10 | protein_coding | 9/21 | chr14 | TogoVar | |||||||
NINJ2_chr12_559296_668445 | 609194 | G | GCGCACGC others(23): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 | 1 | 404 | 0.0025 | 30 | c.34- others(47): Show |
NINJ2 | ENSG00000171840.13 | transcript | ENST00000305108.10 | protein_coding | 1/3 | chr12 | TogoVar | |||||||
NINJ2_chr12_559296_668445 | 629896 | A | AAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG02027.hp1 NA18960.hp2 NA18975.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0001 | a0001c0001t0001g0142 a0001c0001t0001g0154 a0001c0001t0001g0343 others(1): Show |
4 | 404 | 0.0099 | 30 | c.33+ others(47): Show |
NINJ2 | ENSG00000171840.13 | transcript | ENST00000305108.10 | protein_coding | 1/3 | chr12 | TogoVar | |||||||
NINJ2_chr12_559296_668445 | 629896 | A | AAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG01258.hp2 HG02129.hp1 NA19085.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 a0001c0001t0001g0175 a0001c0001t0001g0185 |
3 | 404 | 0.0074 | 30 | c.33+ others(47): Show |
NINJ2 | ENSG00000171840.13 | transcript | ENST00000305108.10 | protein_coding | 1/3 | chr12 | TogoVar | |||||||
NINJ2_chr12_559296_668445 | 629896 | A | AAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG02738.hp2 HG04204.hp1 NA18961.hp2 others(4): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0007t0002 | a0001c0001t0001g0006 a0001c0001t0001g0017 a0001c0001t0001g0018 others(4): Show |
7 | 404 | 0.0173 | 30 | c.33+ others(47): Show |
NINJ2 | ENSG00000171840.13 | transcript | ENST00000305108.10 | protein_coding | 1/3 | chr12 | TogoVar | |||||||
NINJ2_chr12_559296_668445 | 629896 | A | AAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01358.hp1 HG02055.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 a0001c0001t0001g0202 a0001c0001t0001g0228 others(1): Show |
4 | 404 | 0.0099 | 30 | c.33+ others(47): Show |
NINJ2 | ENSG00000171840.13 | transcript | ENST00000305108.10 | protein_coding | 1/3 | chr12 | TogoVar | |||||||
NINJ2_chr12_559296_668445 | 634265 | C | CTTTTTTT others(23): Show |
intron_variant | MODIFIER | NA18968.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 404 | 0.0025 | 30 | c.33+ others(47): Show |
NINJ2 | ENSG00000171840.13 | transcript | ENST00000305108.10 | protein_coding | 1/3 | chr12 | TogoVar | |||||||
NINJ2_chr12_559296_668445 | 649531 | G | GTATATAT others(23): Show |
intron_variant | MODIFIER | HG00099.hp2 HG02273.hp1 HG02300.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0009 a0001c0001t0001g0166 a0001c0001t0001g0167 others(3): Show |
6 | 404 | 0.0149 | 30 | c.33+ others(47): Show |
NINJ2 | ENSG00000171840.13 | transcript | ENST00000305108.10 | protein_coding | 1/3 | chr12 | TogoVar | |||||||
NIPA1_chr15_22781644_22834789 | 22807782 | T | TTGTGTGT others(23): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01884.hp1 HG02145.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0009a0001c0001t0047a0001c0002t0001others(1): Show | a0001c0001t0009g0113 a0001c0001t0047g0278 a0001c0002t0001g0104 others(4): Show |
7 | 400 | 0.0175 | 30 | c.179 others(47): Show |
NIPA1 | ENSG00000170113.16 | transcript | ENST00000337435.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
NIPAL2_chr8_98184826_98299235 | 98280736 | C | CTATATAT others(23): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0143 | 1 | 332 | 0.0030 | 30 | c.135 others(49): Show |
NIPAL2 | ENSG00000104361.10 | transcript | ENST00000430223.7 | protein_coding | 1/10 | chr8 | TogoVar | |||||||
NIPAL2_chr8_98184826_98299235 | 98280761 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0030 | 1 | 332 | 0.0030 | 30 | c.135 others(49): Show |
NIPAL2 | ENSG00000104361.10 | transcript | ENST00000430223.7 | protein_coding | 1/10 | chr8 | TogoVar | |||||||
NIPAL2_chr8_98184826_98299235 | 98280761 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG01257.hp1 NA18970.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0002c0003t0002 | a0001c0001t0002g0161 a0002c0003t0002g0189 |
2 | 332 | 0.0060 | 30 | c.135 others(49): Show |
NIPAL2 | ENSG00000104361.10 | transcript | ENST00000430223.7 | protein_coding | 1/10 | chr8 | TogoVar | |||||||
NIPAL2_chr8_98184826_98299235 | 98280761 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0035 | 1 | 332 | 0.0030 | 30 | c.135 others(49): Show |
NIPAL2 | ENSG00000104361.10 | transcript | ENST00000430223.7 | protein_coding | 1/10 | chr8 | TogoVar |